Prenatal Genetic Diagnosis by Genomic Sequencing: A Prospective Evaluation

通过基因组测序进行产前基因诊断：前瞻性评估

基本信息

批准号：
10522736
负责人：
RONALD WAPNER
金额：
$ 74.7万
依托单位：
COLUMBIA UNIVERSITY HEALTH SCIENCES
依托单位国家：
美国
项目类别：
财政年份：
2022
资助国家：
美国
起止时间：
2022-11-01 至 2024-08-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/10522736
关键词：
Acute Address Adult Algorithms Awareness Childhood Clinical Cloud Computing Collaborations Computer Analysis Congenital Abnormality Data Data Analyses Data Collection Development Developmental Biology Diagnosis Diagnostic Diagnostic Procedure Disease Educational workshop Environment Evaluation FAIR principles Fetal Development Funding Future Genetic Genome Genomics Genotype Goals Guidelines Health Human Individual Infrastructure International Laboratories Learning Mining Modeling Neonatal Screening Ontology Organ Perinatal Phenotype Physicians Population Pregnancy Prenatal Diagnosis Publishing Research Research Personnel Resources Role Second Pregnancy Trimester Series Site Standardization Structural defect System The Jackson Laboratory Third Pregnancy Trimester Time Translational Research United States United States National Institutes of Health Universities Variant Work body system clinical care cloud based data ingestion data integration data management data repository data sharing diverse data experience fetal gene discovery genetic disorder diagnosis genome sequencing genomic data improved in utero industry partner innovation international center novel parent grant perinatal medicine phenotypic data prenatal prevent prospective rare variant recruit repository repository infrastructure response tool volunteer whole genome

项目摘要

Project summary/Abstract Our present R01 funding (R01HD055651) is actively investigating the clinical utility and value of prenatal sequencing of fetal structural anomalies in clinical care. Our work has demonstrated the complexity and uniqueness of the fetal genome and the associated phenotypes. To address this complexity, we developed an international consortium of other sites involved in fetal sequencing, which meets bi-weekly to discuss their experience. There are numerous limits to this informal model and it has illustrated the need for a single, collaborative, domain specific genomic and phenotypic data repository. Combining our efforts with genomics leaders at The Broad Institute and The Jackson Laboratories, we aim to develop a fetal genomic and phenotypic data repository consistent with NIH guidelines for data management and sharing and inclusive of the FAIR goals of findability, accessibility, interoperability and reusability. Building this data repository using cloud infrastructure at The Newborn Screening Translational Research Network (NBSTRN) will incorporate innovative tools and expertise from a number of partners similarly working in genomics and in the perinatal continuum to improve data sharing and collaboration. Additional expertise will be provided to support his project from The Global Alliance for Genomics and Health (GA4GH) along with the parent grant study sites, academic, and industry partners providing pilot data. We anticipate that, when completed, this repository will serve as a major resource for investigators and clinicians working in the fields of genomics, developmental biology, and perinatal medicine. This assembled team will seek to address this critical unmet need to aggregate and harmonize a central repository of fetal genomics data.

项目摘要/摘要我们目前的R01资金（R01HD055651）正在积极调查临床实用性和价值临床护理中胎儿结构异常的产前测序。我们的工作已经证明了胎儿基因组和相关表型的复杂性和独特性。解决这种复杂性，我们建立了一个国际联盟，包括胎儿参与的其他网站测序，每两周开会讨论他们的经历。有很多限制这种非正式模型，它说明了对单一，协作，特定领域的需求基因组和表型数据存储库。将我们的努力与Broad Institute和Jackson的基因组领导者相结合实验室，我们旨在开发与一致的胎儿基因组和表型数据存储库 NIH数据管理和共享指南以及包括可发现性的公平目标，可访问性，互操作性和可重复性。使用云构建此数据存储库新生儿筛查翻译研究网络（NBSTRN）的基础设施将合并许多合作伙伴的创新工具和专业知识基因组学和围产期连续体，以改善数据共享和协作。额外的将提供专业知识，以支持他的全球基因组联盟和健康（GA4GH）以及父母赠款研究网站，学术和行业合作伙伴提供试点数据。我们预计，完成后，该存储库将成为主要在基因组学领域工作的研究人员和临床医生的资源，发展生物学和围产医学。这个组装的团队将寻求解决这个关键的未满足需要汇总和协调胎儿基因组学数据的中央存储库。

项目成果

期刊论文数量（18）

专著数量（0）

科研奖励数量（0）

会议论文数量（0）

专利数量（0）

"Something Extra on Chromosome 5": Parents' Understanding of Positive Prenatal Chromosomal Microarray Analysis (CMA) Results.

DOI：
10.1007/s10897-016-9943-z
发表时间：
2016-10
期刊：
JOURNAL OF GENETIC COUNSELING
影响因子：
1.9
作者：
Walser, Sarah A.;Werner-Lin, Allison;Russell, Amita;Wapner, Ronald J.;Bernhardt, Barbara A.
通讯作者：
Bernhardt, Barbara A.

Causal Genetic Variants in Stillbirth. Reply.

死产的因果遗传变异。